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Results: 1-7 |
Results: 7
Trifunctional protein deficiency: Three families with significant maternalhepatic dysfunction in pregnancy not associated with E474Q mutation
Authors: Chakrapani, A Olpin, S Cleary, M Walter, JH Wraith, JE Besley, GTN
Citation: A. Chakrapani et al., Trifunctional protein deficiency: Three families with significant maternalhepatic dysfunction in pregnancy not associated with E474Q mutation, J INH MET D, 23(8), 2000, pp. 826-834
The 37th Annual Symposium of the SSIEM - Genova 1999 - Preface
Authors: Cerone, R Caruso, U Besley, GTN Pollitt, RJ Brown, GK Hoffmann, GF Gibson, KM
Citation: R. Cerone et al., The 37th Annual Symposium of the SSIEM - Genova 1999 - Preface, J INH MET D, 23(3), 2000, pp. 195-196
Five cases of isolated glycerol kinase deficiency, including two families:failure to find genotype : phenotype correlation
Authors: Sargent, CA Kidd, A Moore, S Dean, J Besley, GTN Affara, NA
Citation: Ca. Sargent et al., Five cases of isolated glycerol kinase deficiency, including two families:failure to find genotype : phenotype correlation, J MED GENET, 37(6), 2000, pp. 434-441
Compound heterozygosity for a Wolman mutation is frequent among patients with cholesteryl ester storage disease
Authors: Lohse, P Maas, S Lohse, P Elleder, M Kirk, JM Besley, GTN Seidel, D
Citation: P. Lohse et al., Compound heterozygosity for a Wolman mutation is frequent among patients with cholesteryl ester storage disease, J LIPID RES, 41(1), 2000, pp. 23-31
The 36th Annual Symposium of the SSIEM-York 1998 - Preface
Authors: Henderson, M Bonham, JR Pollitt, RJ Besley, GTN Brown, GK Hoffmann, GF
Citation: M. Henderson et al., The 36th Annual Symposium of the SSIEM-York 1998 - Preface, J INH MET D, 22(4), 1999, pp. 335-336
Prenatal diagnosis of Canavan disease - Problems and dilemmas
Authors: Besley, GTN Elpeleg, ON Shaag, A Manning, NJ Jakobs, C Walter, JH
Citation: Gtn. Besley et al., Prenatal diagnosis of Canavan disease - Problems and dilemmas, J INH MET D, 22(3), 1999, pp. 263-266
Generalised uridine diphosphate galactose-4-epimerase deficiency
Authors: Walter, JH Roberts, REP Besley, GTN Wraith, JE Cleary, MA Holton, JB MacFaul, R
Citation: Jh. Walter et al., Generalised uridine diphosphate galactose-4-epimerase deficiency, ARCH DIS CH, 80(4), 1999, pp. 374-376
Risultati: 1-7 |